Homo sapiens L. (human) [HSA]

FULL NAME: DNA (cytosine-5)-methyltransferase 1


DESCRIPTION:
Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9.

STRUCTURE SIMILARITY:
Belongs to the C5-methyltransferase family.
Contains 1 CXXC-type zinc finger.
Contains 2 BAH domains.


CATALYTIC ACTIVITY:
S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.


POST-TRANSLATIONAL MODIFICATION:
Sumoylated; sumoylation increases activity.


RELATED PATHWAY(S):
DNA replication
heterochromatin formation


Amino acids sequence

        10         20         30         40         50         60
MPARTAPARV PTLAVPAISL PDDVRRRLKD LERDSLTEKE CVKEKLNLLH EFLQTEIKNQ
        70         80         90        100        110        120
LCDLETKLRK EELSEEGYLA KVKSLLNKDL SLENGAHAYN REVNGRLENG NQARSEARRV
       130        140        150        160        170        180
GMADANSPPK PLSKPRTPRR SKSDGEAKRS RDPPASASQV TGIRAEPSPS PRITRKSTRQ
       190        200        210        220        230        240
TTITSHFAKG PAKRKPQEES ERAKSDESIK EEDKDQDEKR RRVTSRERVA RPLPAEEPER
       250        260        270        280        290        300
AKSGTRTEKE EERDEKEEKR LRSQTKEPTP KQKLKEEPDR EARAGVQADE DEDGDEKDEK
       310        320        330        340        350        360
KHRSQPKDLA AKRRPEEKEP EKVNPQISDE KDEDEKEEKR RKTTPKEPTE KKMARAKTVM
       370        380        390        400        410        420
NSKTHPPKCI QCGQYLDDPD LKYGQHPPDA VDEPQMLTNE KLSIFDANES GFESYEALPQ
       430        440        450        460        470        480
HKLTCFSVYC KHGHLCPIDT GLIEKNIELF FSGSAKPIYD DDPSLEGGVN GKNLGPINEW
       490        500        510        520        530        540
WITGFDGGEK ALIGFSTSFA EYILMDPSPE YAPIFGLMQE KIYISKIVVE FLQSNSDSTY
       550        560        570        580        590        600
EDLINKIETT VPPSGLNLNR FTEDSLLRHA QFVVEQVESY DEAGDSDEQP IFLTPCMRDL
       610        620        630        640        650        660
IKLAGVTLGQ RRAQARRQTI RHSTREKDRG PTKATTTKLV YQIFDTFFAE QIEKDDREDK
       670        680        690        700        710        720
ENAFKRRRCG VCEVCQQPEC GKCKACKDMV KFGGSGRSKQ ACQERRCPNM AMKEADDDEE
       730        740        750        760        770        780
VDDNIPEMPS PKKMHQGKKK KQNKNRISWV GEAVKTDGKK SYYKKVCIDA ETLEVGDCVS
       790        800        810        820        830        840
VIPDDSSKPL YLARVTALWE DSSNGQMFHA HWFCAGTDTV LGATSDPLEL FLVDECEDMQ
       850        860        870        880        890        900
LSYIHSKVKV IYKAPSENWA MEGGMDPESL LEGDDGKTYF YQLWYDQDYA RFESPPKTQP
       910        920        930        940        950        960
TEDNKFKFCV SCARLAEMRQ KEIPRVLEQL EDLDSRVLYY SATKNGILYR VGDGVYLPPE
       970        980        990       1000       1010       1020
AFTFNIKLSS PVKRPRKEPV DEDLYPEHYR KYSDYIKGSN LDAPEPYRIG RIKEIFCPKK
      1030       1040       1050       1060       1070       1080
SNGRPNETDI KIRVNKFYRP ENTHKSTPAS YHADINLLYW SDEEAVVDFK AVQGRCTVEY
      1090       1100       1110       1120       1130       1140
GEDLPECVQV YSMGGPNRFY FLEAYNAKSK SFEDPPNHAR SPGNKGKGKG KGKGKPKSQA
      1150       1160       1170       1180       1190       1200
CEPSEPEIEI KLPKLRTLDV FSGCGGLSEG FHQAGISDTL WAIEMWDPAA QAFRLNNPGS
      1210       1220       1230       1240       1250       1260
TVFTEDCNIL LKLVMAGETT NSRGQRLPQK GDVEMLCGGP PCQGFSGMNR FNSRTYSKFK
      1270       1280       1290       1300       1310       1320
NSLVVSFLSY CDYYRPRFFL LENVRNFVSF KRSMVLKLTL RCLVRMGYQC TFGVLQAGQY
      1330       1340       1350       1360       1370       1380
GVAQTRRRAI ILAAAPGEKL PLFPEPLHVF APRACQLSVV VDDKKFVSNI TRLSSGPFRT
      1390       1400       1410       1420       1430       1440
ITVRDTMSDL PEVRNGASAL EISYNGEPQS WFQRQLRGAQ YQPILRDHIC KDMSALVAAR
      1450       1460       1470       1480       1490       1500
MRHIPLAPGS DWRDLPNIEV RLSDGTMARK LRYTHHDRKN GRSSSGALRG VCSCVEAGKA
      1510       1520       1530       1540       1550       1560
CDPAARQFNT LIPWCLPHTG NRHNHWAGLY GRLEWDGFFS TTVTNPEPMG KQGRVLHPEQ
      1570       1580       1590       1600       1610       1620
HRVVSVRECA RSQGFPDTYR LFGNILDKHR QVGNAVPPPL AKAIGLEIKL CMLAKARESA
      1630
SAKIKEEEAA KD    

Encoded by DNMT1 gene

FULL NAME: DNA (cytosine-5-)-methyltransferase 1


OTHER NAME(S):
AIM
CXXC9
DNMT
FLJ16293
MCMT
MGC104992
HSN1E


DESCRIPTION:
DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgccggcgc gtaccgcccc agcccgggtg cccacactgg ccgtcccggc catctcgctg
        70         80         90        100        110        120
cccgacgatg tccgcaggcg gctcaaagat ttggaaagag acagcttaac agaaaaggaa
       130        140        150        160        170        180
tgtgtgaagg agaaattgaa tctcttgcac gaatttctgc aaacagaaat aaagaatcag
       190        200        210        220        230        240
ttatgtgact tggaaaccaa attacgtaaa gaagaattat ccgaggaggg ctacctggct
       250        260        270        280        290        300
aaagtcaaat cccttttaaa taaagatttg tccttggaga acggtgctca tgcttacaac
       310        320        330        340        350        360
cgggaagtga atggacgtct agaaaacggg aaccaagcaa gaagtgaagc ccgtagagtg
       370        380        390        400        410        420
ggaatggcag atgccaacag cccccccaaa cccctttcca aacctcgcac gcccaggagg
       430        440        450        460        470        480
agcaagtccg atggagaggc taagcgttca agagaccctc ctgcctcagc ctcccaagta
       490        500        510        520        530        540
actgggatta gagctgaacc ttcacctagc cccaggatta caaggaaaag caccaggcaa
       550        560        570        580        590        600
accaccatca catctcattt tgcaaagggc cctgccaaac ggaaacctca ggaagagtct
       610        620        630        640        650        660
gaaagagcca aatcggatga gtccatcaag gaagaagaca aagaccagga tgagaagaga
       670        680        690        700        710        720
cgtagagtta catccagaga acgagttgct agaccgcttc ctgcagaaga acctgaaaga
       730        740        750        760        770        780
gcaaaatcag gaacgcgcac tgaaaaggaa gaagaaagag atgaaaaaga agaaaagaga
       790        800        810        820        830        840
ctccgaagtc aaaccaaaga accaacaccc aaacagaaac tgaaggagga gccggacaga
       850        860        870        880        890        900
gaagccaggg caggcgtgca ggctgacgag gacgaagatg gagacgagaa agatgagaag
       910        920        930        940        950        960
aagcacagaa gtcaacccaa agatctagct gccaaacgga ggcccgaaga aaaagaacct
       970        980        990       1000       1010       1020
gaaaaagtaa atccacagat ttctgatgaa aaagacgagg atgaaaagga ggagaagaga
      1030       1040       1050       1060       1070       1080
cgcaaaacga cccccaaaga accaacggag aaaaaaatgg ctcgcgccaa aacagtcatg
      1090       1100       1110       1120       1130       1140
aactccaaga cccaccctcc caagtgcatt cagtgcgggc agtacctgga cgaccctgac
      1150       1160       1170       1180       1190       1200
ctcaaatatg ggcagcaccc accagacgcg gtggatgagc cacagatgct gacaaatgag
      1210       1220       1230       1240       1250       1260
aagctgtcca tctttgatgc caacgagtct ggctttgaga gttatgaggc gcttccccag
      1270       1280       1290       1300       1310       1320
cacaaactga cctgcttcag tgtgtactgt aagcacggtc acctgtgtcc catcgacacc
      1330       1340       1350       1360       1370       1380
ggcctcatcg agaagaatat cgaactcttc ttttctggtt cagcaaaacc aatctatgat
      1390       1400       1410       1420       1430       1440
gatgacccat ctcttgaagg tggtgttaat ggcaaaaatc ttggccccat aaatgaatgg
      1450       1460       1470       1480       1490       1500
tggatcactg gctttgatgg aggtgaaaag gccctcatcg gcttcagcac ctcatttgcc
      1510       1520       1530       1540       1550       1560
gaatacattc tgatggatcc cagtcccgag tatgcgccca tatttgggct gatgcaggag
      1570       1580       1590       1600       1610       1620
aagatctaca tcagcaagat tgtggtggag ttcctgcaga gcaattccga ctcgacctat
      1630       1640       1650       1660       1670       1680
gaggacctga tcaacaagat cgagaccacg gttcctcctt ctggcctcaa cttgaaccgc
      1690       1700       1710       1720       1730       1740
ttcacagagg actccctcct gcgacacgcg cagtttgtgg tggagcaggt ggagagttat
      1750       1760       1770       1780       1790       1800
gacgaggccg gggacagtga tgagcagccc atcttcctga caccctgcat gcgggacctg
      1810       1820       1830       1840       1850       1860
atcaagctgg ctggggtcac gctgggacag aggcgagccc aggcgaggcg gcagaccatc
      1870       1880       1890       1900       1910       1920
aggcattcta ccagggagaa ggacagggga cccacgaaag ccaccaccac caagctggtc
      1930       1940       1950       1960       1970       1980
taccagatct tcgatacttt cttcgcagag caaattgaaa aggatgacag agaagacaag
      1990       2000       2010       2020       2030       2040
gagaacgcct ttaagcgccg gcgatgtggc gtctgtgagg tgtgtcagca gcctgagtgt
      2050       2060       2070       2080       2090       2100
gggaaatgta aagcctgcaa ggacatggtt aaatttggtg gcagtggacg gagcaagcag
      2110       2120       2130       2140       2150       2160
gcttgccaag agcggaggtg tcccaatatg gccatgaagg aggcagatga cgatgaggaa
      2170       2180       2190       2200       2210       2220
gtcgatgata acatcccaga gatgccgtca cccaaaaaaa tgcaccaggg gaagaagaag
      2230       2240       2250       2260       2270       2280
aaacagaaca agaatcgcat ctcttgggtc ggagaagccg tcaagactga tgggaagaag
      2290       2300       2310       2320       2330       2340
agttactata agaaggtgtg cattgatgcg gaaaccctgg aagtggggga ctgtgtctct
      2350       2360       2370       2380       2390       2400
gttattccag atgattcctc aaaaccgctg tatctagcaa gggtcacggc gctgtgggag
      2410       2420       2430       2440       2450       2460
gacagcagca acgggcagat gtttcacgcc cactggttct gcgctgggac agacacagtc
      2470       2480       2490       2500       2510       2520
ctcggggcca cgtcggaccc tctggagctg ttcttggtgg atgaatgtga ggacatgcag
      2530       2540       2550       2560       2570       2580
ctttcatata tccacagcaa agtgaaagtc atctacaaag ccccctccga aaactgggcc
      2590       2600       2610       2620       2630       2640
atggagggag gcatggatcc cgagtccctg ctggaggggg acgacgggaa gacctacttc
      2650       2660       2670       2680       2690       2700
taccagctgt ggtatgatca agactacgcg agattcgagt cccctccaaa aacccagcca
      2710       2720       2730       2740       2750       2760
acagaggaca acaagttcaa attctgtgtg agctgtgccc gtctggctga gatgaggcaa
      2770       2780       2790       2800       2810       2820
aaagaaatcc ccagggtcct ggagcagctc gaggacctgg atagccgggt cctctactac
      2830       2840       2850       2860       2870       2880
tcagccacca agaacggcat cctgtaccga gttggtgatg gtgtgtacct gccccctgag
      2890       2900       2910       2920       2930       2940
gccttcacgt tcaacatcaa gctgtccagt cccgtgaaac gcccacggaa ggagcccgtg
      2950       2960       2970       2980       2990       3000
gatgaggacc tgtacccaga gcactaccgg aaatactccg actacatcaa aggcagcaac
      3010       3020       3030       3040       3050       3060
ctggatgccc ctgagcccta ccgaattggc cggatcaaag agatcttctg tcccaagaag
      3070       3080       3090       3100       3110       3120
agcaacggca ggcccaatga gactgacatc aaaatccggg tcaacaagtt ctacaggcct
      3130       3140       3150       3160       3170       3180
gagaacaccc acaagtccac tccagcgagc taccacgcag acatcaacct gctctactgg
      3190       3200       3210       3220       3230       3240
agcgacgagg aggccgtggt ggacttcaag gctgtgcagg gccgctgcac cgtggagtat
      3250       3260       3270       3280       3290       3300
ggggaggacc tgcccgagtg cgtccaggtg tactccatgg gcggccccaa ccgcttctac
      3310       3320       3330       3340       3350       3360
ttcctcgagg cctataatgc aaagagcaaa agctttgaag atcctcccaa ccatgcccgt
      3370       3380       3390       3400       3410       3420
agccctggaa acaaagggaa gggcaaggga aaagggaagg gcaagcccaa gtcccaagcc
      3430       3440       3450       3460       3470       3480
tgtgagccga gcgagccaga gatagagatc aagctgccca agctgcggac cctggatgtg
      3490       3500       3510       3520       3530       3540
ttttctggct gcggggggtt gtcggaggga ttccaccaag caggcatctc tgacacgctg
      3550       3560       3570       3580       3590       3600
tgggccatcg agatgtggga ccctgcggcc caggcgttcc ggctgaacaa ccccggctcc
      3610       3620       3630       3640       3650       3660
acagtgttca cagaggactg caacatcctg ctgaagctgg tcatggctgg ggagaccacc
      3670       3680       3690       3700       3710       3720
aactcccgcg gccagcggct gccccagaag ggagacgtgg agatgctgtg cggcgggccg
      3730       3740       3750       3760       3770       3780
ccctgccagg gcttcagcgg catgaaccgc ttcaattcgc gcacctactc caagttcaaa
      3790       3800       3810       3820       3830       3840
aactctctgg tggtttcctt cctcagctac tgcgactact accggccccg gttcttcctc
      3850       3860       3870       3880       3890       3900
ctggagaatg tcaggaactt tgtctccttc aagcgctcca tggtcctgaa gctcaccctc
      3910       3920       3930       3940       3950       3960
cgctgcctgg tccgcatggg ctatcagtgc accttcggcg tgctgcaggc cggtcagtac
      3970       3980       3990       4000       4010       4020
ggcgtggccc agactaggag gcgggccatc atcctggccg cggcccctgg agagaagctc
      4030       4040       4050       4060       4070       4080
cctctgttcc cggagccact gcacgtgttt gctccccggg cctgccagct gagcgtggtg
      4090       4100       4110       4120       4130       4140
gtggatgaca agaagtttgt gagcaacata accaggttga gctcgggtcc tttccggacc
      4150       4160       4170       4180       4190       4200
atcacggtgc gagacacgat gtccgacctg ccggaggtgc ggaatggagc ctcggcactg
      4210       4220       4230       4240       4250       4260
gagatctcct acaacgggga gcctcagtcc tggttccaga ggcagctccg gggcgcacag
      4270       4280       4290       4300       4310       4320
taccagccca tcctcaggga ccacatctgt aaggacatga gtgcattggt ggctgcccgc
      4330       4340       4350       4360       4370       4380
atgcggcaca tccccttggc cccagggtca gactggcgcg atctgcccaa catcgaggtg
      4390       4400       4410       4420       4430       4440
cggctctcag acggcaccat ggccaggaag ctgcggtata cccaccatga caggaagaac
      4450       4460       4470       4480       4490       4500
ggccgcagca gctctggggc cctccgtggg gtctgctcct gcgtggaagc cggcaaagcc
      4510       4520       4530       4540       4550       4560
tgcgaccccg cagccaggca gttcaacacc ctcatcccct ggtgcctgcc ccacaccggg
      4570       4580       4590       4600       4610       4620
aaccggcaca accactgggc tggcctctat ggaaggctcg agtgggacgg cttcttcagc
      4630       4640       4650       4660       4670       4680
acaaccgtca ccaaccccga gcccatgggc aagcagggcc gcgtgctcca cccagagcag
      4690       4700       4710       4720       4730       4740
caccgtgtgg tgagcgtgcg ggagtgtgcc cgctcccagg gcttccctga cacctaccgg
      4750       4760       4770       4780       4790       4800
ctcttcggca acatcctgga caagcaccgg caggtgggca atgccgtgcc accgcccctg
      4810       4820       4830       4840       4850       4860
gccaaagcca ttggcttgga gatcaagctt tgtatgttgg ccaaagcccg agagagtgcc
      4870       4880       4890
tcagctaaaa taaaggagga ggaagctgct aaggactag  

Last modification date: Oct. 2, 2011